Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States
Hoover-Fong, Julie E., Alade, Adekemi Y., Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Liu, Chengxin, McGready, John, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Schulze, Kerry J., Serna, Maria Elena, Smid, Cory J., Bober, Michael B.
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US
Hoover-Fong, Julie E, Schulze, Kerry J, Alade, Adekemi Y, Bober, Michael B, Gough, Ethan, Hashmi, S Shahrukh, Hecht, Jacqueline T, Legare, Janet M, Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M, Rodriguez-Buritica, David F, Serna, Maria E, Smid, Cory, Liu, Chengxin, McGready, John
Published in Orphanet journal of rare diseases (23.12.2021)
Published in Orphanet journal of rare diseases (23.12.2021)
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Multicenter study of mortality in achondroplasia
Hashmi, S. Shahrukh, Gamble, Candace, Hoover‐Fong, Julie, Alade, Adekemi Yewande, Pauli, Richard M., Modaff, Peggy, Carney, Meagan, Brown, Cassondra, Bober, Michael B., Hecht, Jacqueline T.
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers
Nahm, Nickolas J, Mackenzie, W G Stuart, Mackenzie, William G, Gough, Ethan, Hashmi, S Shahrukh, Hecht, Jacqueline T, Legare, Janet M, Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M, Rodriguez-Buritica, David F, Serna, Maria Elena, Smid, Cory J, Hoover-Fong, Julie, Bober, Michael B
Published in Orphanet journal of rare diseases (06.06.2023)
Published in Orphanet journal of rare diseases (06.06.2023)
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P486: Establishing normative collagen X levels in blood in individuals with achondroplasia: Application to understand growth
Hoover-Fong, Julie, Little, Mary Ellen, Legare, Janet, Modaff, Peggy, Dujmusic, Lorena, Hecht, Jacqueline, Serna, Maria, Hashmi, S. Shahrukh, Rodriguez-Buritica, David, Bober, Michael
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Achondroplasia is associated with increased occurrence of apparent life‐threatening events
Legare, Janet M., Smid, Cory J., Modaff, Peggy, Pauli, Richard M.
Published in Acta Paediatrica (01.06.2021)
Published in Acta Paediatrica (01.06.2021)
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Impact of delivery route on postnatal surgical morbidity in fetal achondroplasia: a multicenter cohort study
Brar, Bobby, Hoover-Fong, Julie E., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Dujmusic, Lorena, Little, Mary E., Modaff, Peggy, Pauli, Richard M., Rodriguez – Buritica, David, Serna, Maria E., Smid, Cory, Bober, Michael B.
Published in American journal of obstetrics and gynecology (01.01.2023)
Published in American journal of obstetrics and gynecology (01.01.2023)
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Craniocervical junction issues after infancy in achondroplasia
Smid, Cory J., Legare, Janet M., Modaff, Peggy, Pauli, Richard M.
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
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OP048: The impact of route of delivery on surgical morbidity in fetuses affected by achondroplasia: A multicenter retrospective study
Brar, Bobby, Hoover-Fong, Julie, Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline, Legare, Janet, Little, Mary, Modaff, Peggy, Pauli, Richard, Rodriguez-Buritica, David, Serna, Maria, Smid, Cory, Bober, Michael
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Acanthosis nigricans in achondroplasia
Smid, Cory J., Modaff, Peggy, Alade, Adekemi, Legare, Janet M., Pauli, Richard M.
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Journal Article
Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia
Brar, Bobby K., Bober, Michael B., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Dujmusic, Lorena, Little, Mary E., Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria E., Smid, Cory, Legare, Janet M., Hoover-Fong, Julie E.
Published in Genetics in medicine (01.07.2023)
Published in Genetics in medicine (01.07.2023)
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Weight gain velocity in infants with achondroplasia
Buratti, Madeleine E., Eickhoff, Jens, Modaff, Peggy, Pauli, Richard M., Legare, Janet M.
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
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Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function
Meyer, April N., Modaff, Peggy, Wang, Clark G., Wohler, Elizabeth, Sobreira, Nara L., Donoghue, Daniel J., Pauli, Richard M.
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
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Journal Article
Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers
Campbell, Jeffrey, Legare, Janet M, Piatt, Joseph, Gough, Ethan, Pauli, Richard M, Hashmi, S Shahrukh, Rodriguez-Buritica, David F, Modaff, Peggy, Little, Mary Ellen, Serna, Maria Elena, Smid, Cory J, Dujmusic, Lorena, Hecht, Jacqueline T, Hoover-Fong, Julie E, Bober, Michael B
Published in Journal of neurosurgery. Pediatrics (01.12.2023)
Published in Journal of neurosurgery. Pediatrics (01.12.2023)
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Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Hoover-Fong, Julie, Sobreira, Nara, Jurgens, Julie, Modaff, Peggy, Blout, Carrie, Moser, Ann, Kim, Ok-Hwa, Cho, Tae-Joon, Cho, Sung Yoon, Kim, Sang Jin, Jin, Dong-Kyu, Kitoh, Hiroshi, Park, Woong-Yang, Ling, Hua, Hetrick, Kurt N., Doheny, Kimberly F., Valle, David, Pauli, Richard M.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus
Legare, Janet M., Pauli, Richard M., Hecht, Jacqueline T., Bober, Michael B., Smid, Cory J., Modaff, Peggy, Little, Mary Ellen, Rodriguez‐Buritica, David F., Serna, Maria Elena, Alade, Adekemi Yewande, Liu, Chengxin, Hoover‐Fong, Julie E., Hashmi, S. Shahrukh
Published in American journal of medical genetics. Part A (01.04.2021)
Published in American journal of medical genetics. Part A (01.04.2021)
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